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Article

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.

Hormones (Athens, Greece) - 1 Jan 2000

Zapanti Evaggelia, Polonifi Aikaterini, Kokkinos Michalis, Boutzios George, Kassi Georgia, Nasiri Ansari Narjes, Kassi Eva, Polyzos Aris

Abstract excerpt

PURPOSE: Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR. METHODS: The case subject was a 60-year-old patient referred because of mild hypercalcaemia, increased PTH levels and persistently low calcium/creatinine ratio. FHH was suspected and a family biochemical and...

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Source

Identifiers

PMID: 26158657
DOI: 10.14310/horm.2002.1586

Genes

CASR
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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